55603[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 1282756	NM_017633.3(TENT5A):c.*66del	TENT5A	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1680576	NM_017633.3(TENT5A):c.1325A>G (p.Asn442Ser)	TENT5A (N442S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015129	NM_017633.3(TENT5A):c.1315C>T (p.Leu439=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706692	NM_017633.3(TENT5A):c.1311T>G (p.Thr437=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680577	NM_017633.3(TENT5A):c.1292A>G (p.Gln431Arg)	TENT5A (Q431R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1902634	NM_017633.3(TENT5A):c.1287G>A (p.Thr429=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680578	NM_017633.3(TENT5A):c.1284C>T (p.Phe428=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1680579	NM_017633.3(TENT5A):c.1276C>T (p.Pro426Ser)	TENT5A (P426S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746643	NM_017633.3(TENT5A):c.1236A>G (p.Ala412=)	TENT5A	Single nucleotide variant (synonymous variant)	TENT5A-related condition +1 more	GBenign/Likely benign
Select item 741555	NM_017633.3(TENT5A):c.1230T>C (p.Tyr410=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913828	NM_017633.3(TENT5A):c.1164G>A (p.Val388=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128234	NM_017633.3(TENT5A):c.1160G>A (p.Arg387Gln)	TENT5A (R387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968869	NM_017633.3(TENT5A):c.1147A>T (p.Met383Leu)	TENT5A (M383L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680580	NM_017633.3(TENT5A):c.1137C>T (p.Asn379=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2046811	NM_017633.3(TENT5A):c.1128G>A (p.Gln376=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618254	NM_017633.3(TENT5A):c.1078G>A (p.Gly360Arg)	TENT5A (G360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1680581	NM_017633.3(TENT5A):c.1065C>T (p.Leu355=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065852	NM_017633.3(TENT5A):c.1049G>A (p.Arg350His)	TENT5A (R350H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680582	NM_017633.3(TENT5A):c.1048C>T (p.Arg350Cys)	TENT5A (R350C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935972	NM_017633.3(TENT5A):c.1044A>G (p.Glu348=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680583	NM_017633.3(TENT5A):c.1039T>C (p.Leu347=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622873	NM_017633.3(TENT5A):c.1003A>C (p.Lys335Gln)	TENT5A (K335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1905224	NM_017633.3(TENT5A):c.998A>G (p.Gln333Arg)	TENT5A (Q333R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003682	NM_017633.3(TENT5A):c.986T>C (p.Ile329Thr)	TENT5A (I329T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022600	NM_017633.3(TENT5A):c.976T>C (p.Phe326Leu)	TENT5A (F326L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680584	NM_017633.3(TENT5A):c.951T>C (p.Tyr317=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680585	NM_017633.3(TENT5A):c.918C>T (p.Pro306=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680586	NM_017633.3(TENT5A):c.897C>T (p.Leu299=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857236	NM_017633.3(TENT5A):c.868G>C (p.Gly290Arg)	TENT5A (G290R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744772	NM_017633.3(TENT5A):c.834G>A (p.Lys278=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680587	NM_017633.3(TENT5A):c.829A>C (p.Asn277His)	TENT5A (N277H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680588	NM_017633.3(TENT5A):c.822C>T (p.His274=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993750	NM_017633.3(TENT5A):c.813C>A (p.Ala271=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029627	NM_017633.3(TENT5A):c.790G>T (p.Val264Phe)	TENT5A (V264F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18 +1 more	GUncertain significance
Select item 1680589	NM_017633.3(TENT5A):c.780C>T (p.Ile260=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123609	NM_017633.3(TENT5A):c.760A>C (p.Thr254Pro)	TENT5A (T254P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683688	NM_017633.3(TENT5A):c.749dup (p.Met251fs)	TENT5A (M251fs)	Duplication (frameshift variant)	Osteogenesis imperfecta, type 18	GUncertain significance
Select item 1680590	NM_017633.3(TENT5A):c.696T>G (p.Ser232=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 523123	NM_017633.3(TENT5A):c.692A>G (p.Asp231Gly)	TENT5A (D231G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18	GPathogenic
Select item 523121	NM_017633.3(TENT5A):c.612_613dup (p.Ser205fs)	TENT5A (S205fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta, type 18	GPathogenic
Select item 2174054	NM_017633.3(TENT5A):c.599G>A (p.Arg200Gln)	TENT5A (R200Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907659	NM_017633.3(TENT5A):c.553-4G>A	TENT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834243	NM_017633.3(TENT5A):c.553-21_553-17del	TENT5A	Deletion (intron variant)	not provided	GLikely benign
Select item 2075570	NM_017633.3(TENT5A):c.553-18T>C	TENT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1680591	NM_017633.3(TENT5A):c.552+11C>T	TENT5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2981799	NM_017633.3(TENT5A):c.552+8C>G	TENT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070986	NM_017633.3(TENT5A):c.527AGA[1] (p.Lys177del)	TENT5A (K177del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3176043	NM_017633.3(TENT5A):c.517G>T (p.Val173Leu)	TENT5A (V173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1680592	NM_017633.3(TENT5A):c.516G>C (p.Gly172=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530251	NM_017633.3(TENT5A):c.511G>C (p.Glu171Gln)	TENT5A (E171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2956175	NM_017633.3(TENT5A):c.505T>C (p.Leu169=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020525	NM_017633.3(TENT5A):c.504del (p.Leu169fs)	TENT5A (L169fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2186317	NM_017633.3(TENT5A):c.495G>C (p.Leu165=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722118	NM_017633.3(TENT5A):c.468T>C (p.Thr156=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802771	NM_017633.3(TENT5A):c.464A>G (p.Gln155Arg)	TENT5A (Q155R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3176042	NM_017633.3(TENT5A):c.421G>T (p.Asp141Tyr)	TENT5A (D141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1680593	NM_017633.3(TENT5A):c.417C>T (p.Asp139=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919644	NM_017633.3(TENT5A):c.408C>T (p.Gly136=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090791	NM_017633.3(TENT5A):c.405G>A (p.Leu135=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040645	NM_017633.3(TENT5A):c.394G>C (p.Asp132His)	TENT5A (D132H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 523122	NM_017633.3(TENT5A):c.380A>G (p.His127Arg)	TENT5A (H127R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18	GPathogenic
Select item 2128987	NM_017633.3(TENT5A):c.368C>T (p.Ser123Leu)	TENT5A (S123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733844	NM_017633.3(TENT5A):c.366C>T (p.Gly122=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2720337	NM_017633.3(TENT5A):c.357C>T (p.Arg119=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680594	NM_017633.3(TENT5A):c.356G>T (p.Arg119Leu)	TENT5A (R119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802467	NM_017633.3(TENT5A):c.348C>T (p.Arg116=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1242360	NM_017633.3(TENT5A):c.339T>C (p.Ile113=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3176041	NM_017633.3(TENT5A):c.335G>A (p.Arg112His)	TENT5A (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714041	NM_017633.3(TENT5A):c.335G>T (p.Arg112Leu)	TENT5A (R112L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1680595	NM_017633.3(TENT5A):c.334C>T (p.Arg112Cys)	TENT5A (R112C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172087	NM_017633.3(TENT5A):c.327C>T (p.Ala109=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680596	NM_017633.3(TENT5A):c.321C>T (p.Arg107=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933425	NM_017633.3(TENT5A):c.318G>A (p.Arg106=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680597	NM_017633.3(TENT5A):c.316C>A (p.Arg106=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181538	NM_017633.3(TENT5A):c.312G>T (p.Val104=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007213	NM_017633.3(TENT5A):c.297G>A (p.Leu99=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680598	NM_017633.3(TENT5A):c.283C>T (p.Leu95=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680599	NM_017633.3(TENT5A):c.282G>A (p.Glu94=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965018	NM_017633.3(TENT5A):c.264C>T (p.Gly88=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2056494	NM_017633.3(TENT5A):c.255C>T (p.His85=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709825	NM_017633.3(TENT5A):c.236G>A (p.Ser79Asn)	TENT5A (S79N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2717330	NM_017633.3(TENT5A):c.228C>T (p.Gly76=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680600	NM_017633.3(TENT5A):c.228C>G (p.Gly76=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680601	NM_017633.3(TENT5A):c.227G>A (p.Gly76Asp)	TENT5A (G76D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1680602	NM_017633.3(TENT5A):c.225C>T (p.Asp75=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901845	NM_017633.3(TENT5A):c.214C>A (p.Gln72Lys)	TENT5A (Q72K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412817	NM_017633.3(TENT5A):c.204G>T (p.Trp68Cys)	TENT5A (W68C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18	GUncertain significance
Select item 1680603	NM_017633.3(TENT5A):c.198G>A (p.Leu66=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3176040	NM_017633.3(TENT5A):c.188G>C (p.Cys63Ser)	TENT5A (C63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2897199	NM_017633.3(TENT5A):c.183G>A (p.Ala61=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038952	NM_017633.3(TENT5A):c.182C>G (p.Ala61Gly)	TENT5A (A61G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680604	NM_017633.3(TENT5A):c.168C>T (p.Cys56=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982011	NM_017633.3(TENT5A):c.157T>C (p.Leu53=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680605	NM_017633.3(TENT5A):c.147T>C (p.Gly49=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680606	NM_017633.3(TENT5A):c.143T>G (p.Phe48Cys)	TENT5A (F48C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680607	NM_017633.3(TENT5A):c.139_141del (p.Ser47del)	TENT5A (S47del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1680613	NM_017633.3(TENT5A):c.137G>A (p.Gly46Asp)	TENT5A (G46D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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